Abstract: Traditional detection techniques for chromosomal disease have some limitations, such as time and labor consuming as well as low resolution. With the development of high-throughput sequencing technology, direct detection of DNA or its amplification products can accurately and quickly diagnose chromosomal diseases. In this paper, we review the progresses in copy number variation detection technology based on second-generation high-throughput sequencing technology (CNV-Seq), non-invasive prenatal testing technology (NIPT), and preimplantation genetic testing technology (preimplantation genetic diagnosis, PGD; preimplantation genetic screening, PGS; noninvasive chromosome screening, maritime European communications satellite, MaReCS).